Varaico: Literature-Extracted Genetic Variants

PCDHB15

77 papers

RefSeq Summary

This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization simil...

Pfam Domains

Cadherin_2aa 30–112UCSCCadherin-like

Cadherinaa 138–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 353–442UCSCCadherin domain

Cadherinaa 456–552UCSCCadherin domain

Cadherinaa 575–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 15

HGNC Alias Symbol

PCDH-BETA15

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_018935.4

p.L585P

c.1754T>C

Surrounding Variants

1 paper

NM_018935.4

p.S603*

c.1808C>A

2 papers

NM_018935.4

p.L552M

c.1654C>A

1 paper

NM_018935.4

p.V551L

c.1651G>C

1 paper

NM_018935.4

p.V551L

c.1651G>T

1 paper

NM_018935.4

p.R625H

c.1874G>A

1 paper

NM_018935.4

p.R625L

c.1874G>T

1 paper

NM_018935.4

p.E544G

c.1631A>G

1 paper

NM_018935.4

p.S543S

c.1629C>T

1 paper

NM_018935.4

p.L541L

c.1621C>T

1 paper

NM_018935.4

p.A540A

c.1620G>A

1 paper

NM_018935.4

p.R633R

c.1899C>T

1 paper

NM_018935.4

p.K637E

c.1909A>G